Autosomal Recessive Polycystic Kidney Disease

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Autosomal Recessive Polycystic Kidney Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • polycystic kidney disease, infantile

Disorder Subdivisions

  • None

General Discussion

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have enlarged kidneys during the newborn (neonatal) period and some cases may be fatal at this time. ARPKD is not simply a kidney disease and additional organ systems of the body may also be affected, especially the liver. High blood pressure (hypertension), excessive thirst, frequent urination and feeding difficulties may also occur. Some affected children may also have distinctive facial features and incomplete development of the lungs (pulmonary hypoplasia) causing breathing (respiratory) difficulties. The severity of the disorder and the specific symptoms that occur can vary greatly from one person to another. Some affected children eventually develop end-stage renal disease sometime during the first decade of life. In some cases, symptoms do not develop until adolescence or even adulthood. ARPKD is caused by mutations of the PKHD1 gene.


March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763

American Kidney Fund, Inc.
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Tel: (800)638-8299

National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010

PKD Foundation
8330 Ward Parkway
Suite 510
Kansas City, MO 64114-2000
Tel: (816)931-2600
Fax: (816)931-8655
Tel: (800)753-2873

NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
TDD: (866)569-1162

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Tel: 01212123839
Fax: 01212124300

National Hypertension Association, Inc.
324 East 30th Street
New York, NY 10016
Tel: (212)889-3557
Fax: (212)447-7032
Tel: (800)575-9355

ARPKD/CHF Alliance
PO Box 70
Kirkwood, PA 17536
Tel: (717)529-5555
Fax: (800)807-9110
Tel: (800)708-8892

Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
Tel: (407)895-0802

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766

Kidney & Urology Foundation of America, Inc.
104 West 40th Street
Suite 500
New York, NY 10018
Tel: (212)629-9770
Fax: (212)629-5652
Tel: (800)633-6628

Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
Tel: (801)587-9978
Fax: (801)581-3899

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

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Last Updated:  4/13/2011
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